A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5290205



Internal ID8035254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101919674..101921078hg38UCSC Ensembl
Outerchr12:102313452..102314856hg19UCSC Ensembl
Outerchr12:100837583..100838987hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2499618
Supporting Variants
SamplesNA18507
Known GenesDRAM1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5290205
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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